Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

Abstract Background Type 2 Stickler syndrome is usually a dominant disorder resulting from pathogenic variants in COL11A1 encoding the alpha 1 chain of type XI collagen. Typical molecular changes result in either substitution of an obligate glycine within the Gly‐Xaa‐Yaa amino acid sequence repeat r...

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Bibliografische gegevens
Hoofdauteurs: Thomas Nixon, Allan J. Richards, Adrian Lomas, Stephen Abbs, Pradeep Vasudevan, Annie McNinch, Philip Alexander, Martin P. Snead
Formaat: Artikel
Taal:English
Gepubliceerd in: Wiley 2020-09-01
Reeks:Molecular Genetics & Genomic Medicine
Onderwerpen:
retinal detachment
Stickler
vitreoretinal
Online toegang:https://doi.org/10.1002/mgg3.1354

Internet

https://doi.org/10.1002/mgg3.1354

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